Research Progress on Roles of FGFR1 Gene in Ear Function Development and Mechanisms of FGFR1 Mutations Related Hearing Loss
LIU Fengqun
CHU Jiusheng
PANG Xiuhong
Abstract：Fibroblast growth factor receptor 1(FGFR1),as a growth factor receptor,has tyrosine kinase activity and participates in the growth and development of various organs and tissues by activating multiple downstream signal pathways.Pathogenic mutation or deletion of FGFR1 can cause loss of hair cells and supporting cells in the organ of Corti in the inner ear,loss of type I spiral ganglion neurons(SGN),abnormal migration of neural crest cells(NCC)to branchial arch,and abnormal development of ear bone and cartilage,resulting in various types of deafness.This article will summarize on the structure and function of the FGFR1 gene and FGFR1 protein,its relations to ear development and FGFR1 gene related syndromic deafness to provide a theoretical basis for early targeted intervention for deafness.
Keywords：Fibroblast growth factor receptor 1 gene(FGFR1)Ear developmentSyndromic deafness
Publication Date：2023-10-28
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：6( 722-727 )